Buzi F, Bezante T, Brunori A, Notarangelo L D, Ugazio A G
Department of Paediatrics, University of Brescia, Italy.
J Pediatr Endocrinol Metab. 1995 Jan-Mar;8(1):61-5. doi: 10.1515/jpem.1995.8.1.61.
We report a 2 month-old infant referred for failure to thrive. At birth, weight was 3820 g and length 52 cm. After physiologic weight loss, the patient showed no further weight gain for the next two months. On admittance (age 2 mo), weight was 3340 g and length 53 cm; the infant had severe dystrophy, generalized hypotonia and dehydration; blood chemistry showed hyponatremia, hyperkalemia and hypochloremia. A salt losing syndrome of adrenal origin was hypothesized. However, rehydration and hydrocortisone administration failed to correct hyponatremia and hyperkalemia. Endocrine assessment showed high levels of aldosterone and plasma renin activity, suggesting pseudohypoaldosteronism. Oral sodium chloride supplementation normalized electrolyte balance and the patient showed progressive weight gain and catch-up growth, confirming the diagnosis.
我们报告一名因生长发育迟缓前来就诊的2个月大婴儿。出生时，体重3820克，身长52厘米。生理性体重减轻后，患儿在接下来的两个月内体重未再增加。入院时（2个月龄），体重3340克，身长53厘米；婴儿有严重营养不良、全身肌张力减退和脱水；血液生化检查显示低钠血症、高钾血症和低氯血症。推测为肾上腺源性失盐综合征。然而，补液和给予氢化可的松未能纠正低钠血症和高钾血症。内分泌评估显示醛固酮水平和血浆肾素活性升高，提示假性醛固酮减少症。口服补充氯化钠使电解质平衡恢复正常，患儿体重逐渐增加并实现追赶生长，从而确诊。
